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International Journal of Pediatrics
Volume 2012, Article ID 937175, 4 pages
Review Article

Nephrogenic Syndrome of Inappropriate Antidiuresis

1Centre de Référence des Maladies Rénales Rares du Sud-Ouest, Néphrologie Pédiatrique, CHU Montpellier, Université Montpellier 1, 34295 Montpellier, France
2CNRS, UMR 5203, Inserm U661, IGF, Université Montpellier 1-2, 34094 Montpellier, France
3Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Rares, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, UFR de Médecine Lyon-Est et Inserm U499, Université Claude Bernard Lyon I, 69500 Lyon, France

Received 30 July 2011; Accepted 21 December 2011

Academic Editor: Raymond Quigley

Copyright © 2012 D. Morin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Mutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the mutant V2 receptor. This latter recently described disease may be diagnosed from infancy to adulthood, as some carriers remain asymptomatic for many years. Symptomatic children, however, typically present with clinical and biological features suggesting inappropriate antidiuretic hormone secretion with severe hyponatremia and high urine osmolality, but a low plasma arginine vasopressin level. To date, only two missense mutations in the vasopressin V2 receptor gene have been found in the reported patients. The pathophysiology of the disease requires fuller elucidation as the phenotypic variability observed in patients bearing the same mutations remains unexplained. The treatment is mainly preventive with fluid restriction, but urea may also be proposed.